Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.S1767del1

TET2

2,192 papers

RefSeq Summary

The protein encoded by this gene is a methylcytosine dioxygenase that catalyzes the conversion of methylcytosine to 5-hydroxymethylcytosine. The encoded protein is involved in myelopoiesis, and defect...

Pfam Domains

Tet_JBPaa 1290–1905UCSCOxygenase domain of the 2OGFeDO superfamily

Gene Aliases

HGNC Name

tet methylcytosine dioxygenase 2

HGNC Previous Symbol

KIAA1546

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001127208.3
p.S1767del1
c.5299_5300delAGT
Surrounding Variants
6 papers
NM_001127208.3
p.Y1766*
c.5298C>A
1 paper
NM_001127208.3
p.Y1766_S1767insFs
c.5298_5299insGT
6 papers
NM_001127208.3
p.Y1766*
c.5298C>G
1 paper
NM_001127208.3
p.S1767delFs
c.5299delA
2 papers
NM_001127208.3
p.S1767fs
c.5299_5300fs
1 paper
NM_001127208.3
p.Y1766insFs
c.5297_5298insT
3 papers
NM_001127208.3
p.Y1766delFs
c.5298delC
1 paper
NM_001127208.3
p.S1767fs
c.5299_5300fs
1 paper
NM_001127208.3
p.S1767N
c.5300G>A
1 paper
NM_001127208.3
p.S1767T
c.5300G>C
1 paper
NM_001127208.3
p.Y1766_S1767ins4
c.5296_5300ins12
2 papers
NM_001127208.3
p.N1765K
c.5295C>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."